- Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
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Cali F, Ragalmuto , Chiavetta , Calabrese , Fichera M, Vinci M, Ruggeri G, Schinocca , Sturnio M, Romano S, Romano V, Elia M
- KMID: 1115268
- Exp Mol Med.
- 2010 Dec;42(12):842-848.
- doi: 10.3858/emm.2010.42.12.087
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to... -
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- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
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Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca , Ragalmuto , Chiavetta , Micciche S, Romano V
- KMID: 983980
- Exp Mol Med.
- 2010 Feb;42(2):81-86.
- doi: 10.3858/emm.2010.42.2.009
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning... -
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